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ORPHA:169808

Mild hemophilia A

low confidenceSubtype of disorder

Also known as: Mild congenital F8 deficiency · Mild congenital factor VIII deficiency

Publications

1,219

Trials

3

Interventional, condition-specific

Researchers

1,151

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A mild form of hemophilia A characterized by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous hemorrhages do not occur. Patients may be also labeled as having mild hemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with hemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

mild factor VIII deficiency · mild haemophilia type A · mild hemophilia type A

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,219 matched papers (704 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,219

1,219 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,219 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

704 in the last 10 years · low confidence

Phrase hits: 1,219 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,151

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Fijnvandraat K10 papers · 2025

    Pediatric Hematology Amsterdam UMC Emma Children's Hospital University of Amsterdam Amsterdam The Netherlands.

    Papers in Europe PMC
  2. 02
    Coppens M9 papers · 2025

    Department of Vascular Medicine, Amsterdam University Medical Centres, Amsterdam, the Netherlands.

    Papers in Europe PMC
  3. 03
    Leebeek FWG9 papers · 2025

    Department of Hematology, Erasmus MC, Rotterdam, the Netherlands.

    Papers in Europe PMC
  4. 04
    Castaman G8 papers · 2025

    Department of Oncology Center for Bleeding Disorders Careggi University Hospital Florence Italy.

    Papers in Europe PMC
  5. 05
    Gouw SC7 papers · 2023

    Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands.

    Papers in Europe PMC
  6. 06
    Pabinger I7 papers · 2025

    Clinical Division of Hematology and Hemastaseology, Department of Medicine I, Medical University of Vienna, Vienna, Austria.

    Papers in Europe PMC
  7. 07
    Hermans C6 papers · 2026

    Hemostasis and Thrombosis Unit, Division of Hematology, Cliniques Universitaires Saint-Luc, Université catholique de Louvain (UCLouvain), 1200 Brussels, Belgium. Electronic address: cedric.hermans@uclouvain.be.

    Papers in Europe PMC
  8. 08
    Nogami K6 papers · 2026

    Department of Pediatrics, Nara Medical University, 840 Shijo-cho, Kashihara, Nara, 634-8522, Japan.

    Papers in Europe PMC
  9. 09
    Peyvandi F6 papers · 2026

    Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Beckers EAM5 papers · 2023

    Department of Hematology, Maastricht University Medical Centre, Maastricht, the Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 332 trials are registered for hemophilia A, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

low confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: hemophilia A

332

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Mild hemophilia A" OR "Mild congenital F8 deficiency" OR "Mild congenital factor VIII deficiency" OR "mild factor VIII deficiency" OR "mild haemophilia type A" OR "mild hemophilia type A"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Mild hemophilia A" OR "Mild congenital F8 deficiency" OR "Mild congenital factor VIII deficiency" OR "mild factor VIII deficiency" OR "mild haemophilia type A" OR "mild hemophilia type A"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hemophilia A"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1219) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T08:38:36.957Z